Familial hypercholesterolemia, what is this?

High. It's high cholesterol that runs in the family. It'susually due to a missing enzyme and the cholesterols can be very high but it's variable depending on the exact type that you have.

Related Questions

Do you have to have cardiovascular diseases if you have familial hypercholesterolemia? What are all the symptoms?

Hypercholesterolemia. Not necessarily.It is certainly a risk factor, so paying attention to symptoms is important.Symptoms include chest pain, arm pain, shortness of breath on exertion or rest, palpitations, fatigue to name the common symptoms.If you get any of these symptoms, make sure you seek medical attention. Read more...
Familial. Hypercholesterolemia is a predisposing factor for cardiovascular disease together with hypertension , diabetes , smoking and other factors . This is not to say that all people with this condition will develop cardiovascular disease . Treatment of the condition in different form will reduce the risk significantly . Talk to your doctor and know your risk and take action. Read more...

What can you do to address familial hypercholesterolemia?

Consult a . Cardiologist: familial hypercholesterolemia results in early atherosclerotic heart disease and requires intensive dietary and medication management, best handled by an expert. You may wish to consult the following site. http://www.ncbi.nlm.nih.gov/pubmedhealth/pmh0001429/. Read more...
See a Lipidologist. Familial hypercholesterolemia (fh) is a genetic disorder causing decreased clearance of LDL from blood. Most patients get a defective gene from on parent causing heterozygous fh (about 1 in 500 children). Rarely, genes from both parents are defective giving homozygous fh (1 in 1, 000, 000). Lipidologists specialize in managing fh patients. Check http://www.Learnyourlipids.Com to find a lipidologist. Read more...
Find a Lipidologist. Lipidologists are cholesterol specialists. You can go to the website www.Learnyourlipids.Com or the website for the fh foundation www.Thefhfoundation.Org - both offer support and guidance regarding diagnosis and treatment for this condition . Read more...

How do I find out if I have familial hypercholesterolemia?

Bloodwork. 1/500 folks have 1-dose disease; 2-dose disease is rare, striking and would probably be diagnosed already. Very high LDL cholesterol despite healthy lifestyle, a family history, and often certain bumps ("xanthomas") that your physician can recognize are suggestive. A geneticist can make the diagnosis using dna, but the key is managing the cholesterol. Stay proactive, and good luck. Read more...
Tests. You should the discuss the matter with your doctor as it may require performing multiple tests, in succession on you and your family members. The first one would be to have blood lipids tested in fasting state and depending on those results, other tests and tests on family members may be needed. Confirmation of the diagnosis may require molecular testing. Read more...
Cholesterol Testing. Familial hypercholesterolemia is a genetically inherited condition causing extremely high cholesterol levels from birth, with increased lifetime risk of cardiovascular disease, often accompanied by external signs of high cholesterol (but not always) such as cholesterol deposits in the tendons (xanthoma) around the eyes (xanthelasma) or in the eye (corneal arcs) lipid levels&family history are key. Read more...

Does anyone know how familial hypercholesterolemia is diagnosed?

Lipid testing. A simple blood test will help your doctor determine whether you have a genetic disorder that makes it difficult for your body to maintain normal levels of cholesterol and triglycerides. Read more...
Cholesterol and fam. Typical diagnostic criteria is: 1.) extremely high cholesterol 2.) someone else in the family with extremely high cholesterol, premature heart disease, and possibly tendon xanthomas. Or genetic testing (rarely needed). Read more...
3 definititions. The diagnosis of familial hypercholesterolemia (fh) is made by a combination of cholesterol levels, family history of hypercholesterol and premature heart disease, a patients history of vascular disease, skin / eye findings of fh (xanthomas, corneal arcus), and possibly genetic tests. The dutch lipid clinic registry, simon-broom, and us medped definitions of fh use a combination of these factors. Read more...

Are there any common complications of familial hypercholesterolemia?

YES. Familial hypercholesterolemia can be very potentially serious. A full evaluation of what you lipid profile, family history, longevity of family members, diseases in the fh are all important for your future health and will guide you as to what lifestyle changes you must make it quality of life and longevity. Get ye to a good primary care internist. Read more...
Early Heart Disease. Familial hypercholesterolemia (fh) is a genetic disorder causing decreased clearance of LDL from blood resulting in very high LDL levels during childhood. Premature heart disease is very common among fh patients. Current nih recommendations call for lipid screening for all children age 9 - 11. For fh children who do not respond to diet / exercise statin therapy is recommended beginning at age 10. Read more...
Heart Disease, Aorta. Fh (familial hypercholesterolemia) is associated with extremely high cholesterol levels from birth. Because of this, patients develop early and aggressive heart disease ( atherosclerosis). In addition, patients can develop narrowing of the aortic valve in the heart (aortic stenosis). Patients with fh can also develop cholesterol deposits on the tendons , around the eye, and recurrent tendonitis. Read more...

How many people have familial hypercholesterolemia, say out of 1000 people?

2 Types. One is common and occurs in 1in 500 people and usually responds to medicines. A second type is rare occurs in 1 in 1, 000, 000 and does not respond to meds.Often apheresis (dialysis for cholesterol) is needed. Read more...
1 in 500. 1 in 500 will have familial hypercholesterolemia. If you think you have this disorder, please see a lipid specialist and get your family checked for high cholesterol. Contact me if you need a lipid specialist in the dallas area. Read more...

I believe I have familial hypercholesterolemia, does this need to be treated?

Yes. I would imagine that you have a high LDL cholesterol and that other family members have as well, despite eating sensibly and staying fit. The question is "how" to treat it. When I was a med student, true familial hypercholesterolemia guaranteed early death. The statins were life-savers for these folks. Get a proper workup from a competent physician. Read more...

What is pure hypercholerosterolemia? Is it the same as familial hypercholesterolemia?

May be. essentially it means in your lipid profile it's the Cholesterol or LDL is elevated. It may be genetic or due to lifestyle, either way it needs to be treated, and best that works are the Statins( Lipitor, (atorvastatin) creator, simvastatin). Also diet and excercise. Important to bring to below normal since it increases your risk of Heart disease or Coronary diseases. Read more...